| Amino acid disorders: |
| • Phenylalanine hydroxylase (PAH) deficiency |
| • Homocystinuria |
| • Maple syrup urine disease |
| • Tyrosinemia |
| Urea cycle disorders: |
| • Arginase deficiency |
| • Argininosuccinic acidemia |
| • Carbamyl phosphate synthetase deficiency |
| • Citrin deficiency |
| • Citrullinemia |
| • Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome |
| • N-acetylglutamate synthetase deficiency |
| • Ornithine transcarbamylase deficiency |
| Organic acid disorders: |
| • β-ketothiolase deficiency |
| • Glutaric acidemia type I |
| • HMG-CoA lyase deficiency |
| • Isovaleric academia |
| • 3-methylcrotonyol-CoA carboxylase deficiency (3MCC) |
| • Methylmalonic acidemias (MMA) |
| • Propionic acidemia |
| Fatty acid oxidation disorders: |
| • Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency |
| • Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency |
| • Carnitine uptake defect (CUD) |
| • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| • Trifunctional protein deficiency |
| Other disorders: |
| • Guanidinoacetate methyltransferase (GAMT) deficiency* |
| • Mucopolysaccharidosis type I (MPSI)* |
| • Farber disease* |
| • Galactosemia |
| • Glycogen storage disease type I |
| • Multiple carboxylase deficiency/biotinidase deficiency |
| • Pyridoxine-dependent epilepsy |
